Citations

Purkinje cell cytoplasmic antibody type 1 (PCA-1), or anti-Yo, is the most frequently detected autoantibody in paraneoplastic cerebellar degeneration (PCD). The vast majority of cases of anti-Yo PCD, however, occur in females over 60 years old and are associated with gynecologic tumors. Only 10 cases have been reported in males, and only 2 were associated with cancer of the lung. Here we describe the youngest known case of PCA-1 positive PCD in a male, whose lung tumor was undetectable even on FDG-PET.

Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer’s disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, high-angular resolution diffusion MRI. We adapted GWASs to screen the brain’s connectivity pattern, allowing us to discover genetic variants that affect the human brain’s wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer’s disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism ( MACROD2 ), development ( NEDD4 ), and mental retardation ( UBE2A ) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases.

Traumatic brain injury (TBI) is a global public health epidemic. In the US alone, more than 3 million people sustain a TBI annually. It is one of the most disabling injuries as it may cause motor and sensory deficits and lead to severe cognitive, emotional, and psychosocial impairment, crippling vital areas of higher functioning. Fueled by the recognition of TBI as the “signature injury” in our wounded soldiers in Iraq and Afghanistan, and its often devastating impact on athletes playing contact sports, interest in TBI and TBI research has increased dramatically. Unfortunately, despite increased awareness of its detrimental consequences, there has been little progress in developing effective TBI interventions. Recent evidence, however, strongly indicates that nutritional intervention may provide a unique opportunity to enhance the neuronal repair process after TBI. To date, two omega-3 fatty acids, docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA), have the most promising laboratory evidence for their neuro-restorative capacities in TBI. Although both animal models and human studies of brain injuries suggest they may provide benefits, there has been no clinical trial evaluating the effects of n-3 fatty acids on resilience to, or treatment, of TBI. This article reviews the known functions of n-3 fatty acids in the brain and their specific role in the cellular and biochemical pathways underlying neurotraumatic injury. We also highlight recent studies on the therapeutic impact of enhanced omega 3 intake in vivo , and how this may be a particularly promising approach to improving functional outcome in patients with TBI.

AbstractA limited amount of research indicates patient requests play a major role in genetic counselors’ self‐disclosure decisions and that disclosure and non‐disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors’ experiences of prenatal patients’ requests for self‐disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self‐disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy‐six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self‐disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self‐disclosure, professional self‐disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

Background —Numerous studies have shown that women undergoing coronary revascularization procedures do so at a higher risk for an adverse outcome compared with men. However, the impact of advances in technology and improvements in techniques on in-hospital and long-term outcome after revascularization in women is unclear. Methods and Results —We evaluated 1829 patients with symptomatic multivessel coronary disease randomized to CABG or PTCA in the Bypass Angioplasty Revascularization Investigation (BARI), of whom 27% were women. As expected, women were older (64.0 versus 60.5 years), with more congestive heart failure (14% versus 7%), hypertension (68% versus 42%), treated diabetes mellitus (31% versus 15%), and unstable angina (67% versus 61%) than men but had similar preservation of left ventricular function and extent of multivessel disease. Women assigned to surgery received the same number of total grafts but fewer internal mammary artery grafts (72% versus 85%, P <0.01), and those assigned to angioplasty had more intended lesions (76% versus 71%, P <0.01) successfully dilated than men. At an average of 5.4 years’ follow-up, crude mortality rates were similar in women (12.8%) and men (12.0%). The Cox regression model adjusting for baseline differences revealed that women had a significantly lower risk of death (relative risk, 0.60; 95% CI, 0.43 to 0.84; P =0.003) but not a significantly lower risk of death plus myocardial infarction (relative risk, 0.84; 95% CI, 0.66 to 1.07; P =0.16) than men. Conclusions —Although the unadjusted mortality rate suggests that women and men undergoing CABG and PTCA have a similar 5-year mortality, women have higher risk profiles; consequently, contrary to previous reports, female sex is an independent predictor of improved 5-year survival after we control for multiple risk factors.

Abstract Experiences at time of breast cancer (BC) diagnosis are associated with patient psychological health several months to years later; however, little investigation of this relationship during initial period following diagnosis has been undertaken.METHODS:This prospective study was designed to characterize the experience of receiving cancer diagnosis in women initiating treatment for BC (Stage 0 to III) and to identify associations between this experience and early psychological adjustment, hopefulness, and satisfaction with medical care. 121 women who recently received BC diagnosis prompting referral to specialty center responded to questionnaires assessing their experiences and coping styles:1. Experience Receiving Breast Cancer Diagnosis (ERBCD), categorizing patient demographic, medical, and psychosocial factors; context factors (location, privacy); clinician factors and behaviors.2. Cancer Diagnostic Interview Scale (CDIS) for perceived psychotherapeutic techniques used by clinican conveying cancer diagnosis.3. Mental Adjustment to Cancer Scale (MAC) for coping styles of fighting spirit, hopelessness/helplessness, anxious preoccupation, fatalism, and avoidance.Subjects completed the Profile of Mood States (POMS), Spielberger State-Trait Anxiety Inventory (STAI) and ratings of hopefulness and satisfaction. Multivariate regression analysis was employed with scores from POMS, STAI, hopefulness and satisfaction as dependent variables and values from ERBCD, CDIS and MAC as independent variables.RESULTS:Patients received diagnosis from general physicians, surgeons, radiologists, nurses, NP/PAs, gynecologists, breast specialists, family members, and secretaries. BC diagnosis was disclosed by telephone (59%), face-to-face (40%), letter (1%) and spouse (1%). Mean CDIS-Caring score was 3.4 ± 1.1 and CDIS-Competence was 4.0 ± 0.9 of 5.0. Results of multivariate regression analysis are shown:POMS-Total Mood DisturbanceIndependent VariableParameterSEP ValueAge-0.6600.2760.0183MAC-Fighting Spirit-1.1550.4360.0093MAC-Anxious Preoccupation5.2720.780&lt; 0.001 STAI-State AnxietyIndependent VariableParameterSEP ValueRecent Stress Level0.9420.3710.0127MAC-Fighting Spirit-0.3670.1480.0147MAC-Anxious Preoccupation1.9740.271&lt;0.0001MAC-Avoidant4.4671.4950.0036 Satisfaction was predicted by CDIS-Caring, individual conveying diagnosis, type of information helpful, feeling concerns were understood.CONCLUSIONS:Experiences receiving BC diagnosis are variable and associated with hopefulness and satisfaction. Age, recent stress level and predominant coping style appear more predictive of psychological adjustment (POMS, STAI) than experience receiving BC diagnosis. Understanding these relationships provides direction for future research and clinical interventions to identify patients at risk for early mood disturbance and anxiety following BC diagnosis and to modify aspects of conveying BC diagnosis that influence hopefulness and satisfaction with medical care.HopefulnessIndependent VariableParameterSEP ValueCDIS-Caring0.4270.088&lt;0.0001Diagnosis by Telephone0.3810.1770.0338Opportunity to Ask Questions0.4440.2270.0535Recent Stress Level-0.0820.0290.0057MAC-Fighting Spirit0.0430.0120.0005MAC-Anxious Preoccupation-0.0610.0230.0098 Citation Information: Cancer Res 2009;69(24 Suppl):Abstract nr 1069.